Canonical Allele Identifier: CA206614799

Gene: ERCC6

Linked Data

• dbSNP Id: rs747021788
• gnomAD v4: 10-49459249-C-T
• MyVariant Identifiers: chr10:g.50667295C>T (hg19) ; chr10:g.49459249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459249C>T , CM000672.2:g.49459249C>T	GRCh38
NC_000010.10:g.50667295C>T , CM000672.1:g.50667295C>T	GRCh37
NC_000010.9:g.50337301C>T	NCBI36
NG_009442.1:g.84853G>A , LRG_465:g.84853G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-15G>A MANE Select	ENSP00000348089.5:n.4063-15G>A
ENST00000679552.1:n.2257G>A
ENST00000679871.1:n.1209-15G>A
ENST00000679974.1:n.1112-15G>A
ENST00000681632.1:n.5466-15G>A
ENST00000681659.1:c.3904-15G>A	ENSP00000505631.1:n.3904-15G>A
ENST00000355832.9:c.4063-15G>A	ENSP00000348089.5:n.4063-15G>A
ENST00000623073.3:c.*2359-15G>A	ENSP00000485650.1:n.*2359-15G>A
ENST00000623115.3:c.2173-15G>A	ENSP00000485321.1:n.2173-15G>A
ENST00000624341.3:c.1895-15G>A
NM_000124.3:c.4063-15G>A	NP_000115.1:n.4063-15G>A
XR_945953.1:n.243-12316C>T
NM_001346440.1:c.4063-15G>A	NP_001333369.1:n.4063-15G>A
NM_000124.4:c.4063-15G>A MANE Select	NP_000115.1:n.4063-15G>A
NM_001346440.2:c.4063-15G>A	NP_001333369.1:n.4063-15G>A